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  1. 1721
    “…In one family, we found a weak association of a novel nonsense mutation with epilepsy, suggesting reduced penetrance, and which shows, in agreement with previous findings, that gain-of-function effects rather than haploinsufficiency are important for the pathogenicity of mutations. …”
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    Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases
  2. 1722
    “…Loss of TDP-43 triggers the retention of a previously unidentified cryptic exon, which targets Neurofascin mRNA for nonsense-mediated decay. Thus, TDP-43 is required for neurofascin expression, proper assembly and maintenance of paranodes, and rapid saltatory conduction. …”
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    TDP-43 maximizes nerve conduction velocity by repressing a cryptic exon for paranodal junction assembly in Schwann cells
  3. 1723
    “…We also showed that the inhibition of the nonsense-mediated RNA decay (NMD) pathway, resulted in the up-regulation of E7 at both RNA and protein levels. …”
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    The exon junction complex core factor eIF4A3 is a key regulator of HPV16 gene expression
  4. 1724
    “…Recently, increasing AS variants encoding normal or novel proteins, or degraded by nonsense-mediated decay (NMD) and their corresponding splicing factors or regulators acting at the posttranscriptional level have been functionally characterized. …”
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    Normal, novel or none: versatile regulation from alternative splicing
  5. 1725
    “…Sequencing analysis revealed that the two mutants each had a different nonsense mutation in OsARG, confirming that the target gene is OsARG. …”
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    Loss of Function of OsARG Resulted in Pepper-Shaped Husk in Indica Rice
  6. 1726
    “…A novel deletion (c.468_469delTG) in the UBAP1 gene was found in the first family, whereas a nonsense variant (c.512T>G) was ascertained in the second family. …”
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    Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia
  7. 1727
    “…A clinical exome identified biallelic nonsense variants in MKS1 that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. …”
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    Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants
  8. 1728
    “…We report on an 8-year-old Japanese girl who presented with a developmental disorder and microcephaly and carries a novel nonsense mutation in CHAMP1. Therefore, CHAMP1 mutation should be considered as a differential diagnosis of global developmental delay and microcephaly.…”
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    Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
  9. 1729
    “…In genetic analysis, we identified a novel, hemizygous nonsense c.3763 C>T (G1n1255Ter) variant in IGSF1 gene. …”
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    A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene
  10. 1730
    “…It was carried out in two groups of patients with extreme phenotypes (toxicity versus control) newly treated with a fluoropyrimidine, during the first three cycles of treatment. A novel nonsense gene variant (c.2197insA) was most likely responsible for fluoropyrimidine-induced toxicity in one patient, while neither DPYD mRNA expression nor plasma uracil concentration was globally associated with early toxicity. …”
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    DPYD Exome, mRNA Expression and Uracil Levels in Early Severe Toxicity to Fluoropyrimidines: An Extreme Phenotype Approach
  11. 1731
    “…Specifically, missense mutations (as in case of patient 2) are associated with milder clinical expression, whereas mutations which result in truncation of the CDH7 protein (as in the case of patient 1 having a nonsense mutation) may be associated with a more severe clinical expression.…”
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    CHARGE syndrome: A case report of two new CDH7 gene mutations
  12. 1732
    “…Interestingly, we also found intergenic snoRNAs, which we showed are in fact integrated into candidate introns of unannotated transcripts or degraded by the Nonsense Mediated Decay pathway. Hence, intergenic snoRNAs represent a new type of landmark for the identification of new transcripts that have gone undetected because of low abundance or degradation after the release of the snoRNA.…”
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    Systematic Identification and Functional Validation of New snoRNAs in Human Muscle Progenitors
  13. 1733
    “…Other symptoms such as hearing loss, intellectual disability, and hyperglycemia were remarkable, and these symptoms are often observed in WSS patients. We found a nonsense mutation in the 11th exon of the gene DCAF17 (Refseq: NM_025000) in the patient and her younger brother, which confirmed the diagnosis of WSS. …”
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    Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
  14. 1734
    “…Among the types of pathogenic variants, missense variants were found in 11, nonsense variants in 8, and splice site variants in 7. …”
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    Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1
  15. 1735
    “…RESULTS: Genetic testing revealed a homozygous nonsense variant c.1577G>A (p.Trp526*) in the BMPER gene, leading to a premature stop in protein translation. …”
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    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process
  16. 1736
    “…Nonsense-mediated RNA decay (NMD) mechanism controls the quality of eukaryotic mRNAs by degradation of aberrant transcripts with a premature stop codon (PTC) in a pioneer round of translation. …”
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    Quantitative proteomic dataset of the moss Physcomitrium patens SMG1 KO mutant line
  17. 1737
    “…Here, we describe a nonsense variant of the XLID gene, WDR13. The mutation c.757C>T (p.Arg253Ter) was uncovered by X-chromosome exome sequencing in males with a familial form of intellectual disability. …”
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    WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability
  18. 1738
    “…The collected data show that the Human Fibrinogen Database reports considerably fewer missense and synonymous mutations than the general COSMIC and dbSNP databases. Homozygous nonsense or frameshift mutations in the αC-connector are responsible for most clinically relevant symptoms, while heterozygous mutations are often asymptomatic. …”
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    Extension of the Human Fibrinogen Database with Detailed Clinical Information—The αC-Connector Segment
  19. 1739
    “…Family 2 had a novel homozygous nonsense mutation in SLC24A4 gene (NM_153646.4:c.613C>T, NP_705932.2:p.…”
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    Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta
  20. 1740
    por Okada, Hajime, Saga, Yumiko
    Publicado 2022
    “…Recently, a well-conserved compensatory mechanism was proposed: transcriptional adaptation of homologs under the nonsense-mediated mRNA decay pathways. However, this model cannot explain the onset of all compensatory events. …”
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    Repurposing of the enhancer-promoter communication underlies the compensation of Mesp2 by Mesp1
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